DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Myopathy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607490
rs267607490 		0.925 0.160 2 219425734 missense variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2015 2017
dbSNP: rs57639980
rs57639980 		1.000 0.160 2 219421350 missense variant T/C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 1999 2002
dbSNP: rs1231213195
rs1231213195 		2 219418473 missense variant C/G snv 4.5E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1243057653
rs1243057653 		2 219419031 missense variant T/C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs267607486
rs267607486 		1.000 0.160 2 219420346 missense variant G/A;C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs57965306
rs57965306 		0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs59962885
rs59962885 		0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs62636495
rs62636495 		0.925 0.200 2 219418500 missense variant C/A;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008